ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)

gnomAD frequency: 0.00015  dbSNP: rs375204972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177944 SCV000229907 uncertain significance not provided 2014-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317043 SCV000850115 likely benign Inborn genetic diseases 2016-07-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001086566 SCV001004928 likely benign CHARGE association 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000177944 SCV001829549 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing

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